The role of the 148 Asp/Glu polymorphism of the APE1 gene in the development and progression of primary open angle glaucoma development in the Polish population

Abstract

Glaucoma is an ocular disorder that is characterized by progressive degeneration of the optic nerve and loss of visual field (VF). Recent data have suggested that the level of oxidative DNA damage in human trabecular meshwork is significantly increased in glaucomatous patients as compared to controls. It was also noted that progressive loss of visual field may by connected with elevated levels of oxidative DNA lesions. This hypothesis may suggest the role of an inefficient base excision repair pathway in primary open angle glaucoma (POAG) pathogenesis. The aim of the study was to evaluate the association of the 148 Asp/Glu APE1 gene polymorphism with the risk of POAG development. One hundred fifty patients with POAG and 190 controls were enrolled in our study. Gene polymorphisms were analyzed by PCR-CTPP. We did not observe a statistically significant difference between the frequencies of alleles and genotypes of the 148 Asp/Glu APE1 gene polymorphism in POAG patients and controls. However, the presented study indicated that 148 Asp/Glu of the APE1 gene was associated with decreased risk of progression of POAG with reference to the parameter VF. We suggest that the 148 Asp/Glu APE1 gene polymorphism may decrease the risk of POAG progression.

The role of base excision repair in the development of primary open angle glaucoma in the Polish population

“…The results of our data confirmed our preliminary study's results that presented a lack of association between this gene and the risk of POAG development [63].…”

“…Such a composition of research allows us to assess which stage of BER might play a crucial role in pathogenesis and whether the screened SNPs may potentially disturb BER. Our results herein enhanced our preliminary study regarding the role of SNPs in the pathogenesis of POAG [48,63]. Thus, it can be noted that POAG patients have decreased BER repair capacity.…”

“…Furthermore, we continued our research to establish the role of the association between RNFL, c/d and VF clinical parameters and the studied genes [48,63].…”

Association of Gene Polymorphisms With Primary Open Angle Glaucoma: A Systematic Review and Meta-Analysis

“…94,95,104,121 The pooled results showed that rs1799750 was significantly correlated with POAG in recessive model (OR 1.64, 95% CI: 1.05-2.56; P ¼ 0.01, I 2 ¼ 73. 90). No evidence of association was observed in rs3918242 in the MMP gene 94,95 (Table 2, Supplementary Files S7).…”

“…For SNP 148Asp/Glu in the APE1 gene, two studies (562 POAG cases and 644 controls) were involved. 74,90 Significant association was found between this SNP and POAG risk in homozygote (OR 5.91, 95% CI: 1.24-28.17; P ¼ 0.85, I 2 ¼ 0.00) and recessive models (OR 5.26, 95% CI: 1.12-24.82; P ¼ 0.85, I 2 ¼ 0.00), but not in allelic, heterozygote, or dominant models ( Table 2, Supplementary Files S4).…”